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Motokazu Tsujikawa, Kaoru Tsujikawa, Naoyuki Maeda, Hitoshi Watanabe, Yoshitsugu Inoue, Yukihiko Mashima, Yoshikazu Shimomura, Yasuo Tano; Rapid Detection of M1S1 Mutations by the Protein Truncation Test. Invest. Ophthalmol. Vis. Sci. 2000;41(9):2466-2468.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To determine a method of rapid detection of M1S1 gene
mutations in patients with gelatinous droplike corneal
methods. Forty-one patients from 35 families with gelatinous drop-like corneal
dystrophy were studied. The entire coding region of the M1S1 gene was screened using the protein truncation test (PTT), with a
polymerase chain reaction fragment amplified from genomic DNA serving
as a template of in vitro translation.
results. Homozygous or compound heterozygous mutations were detected in all
patients by a single reaction of the PTT. This result matched those
obtained using the polymerase chain reaction–restriction fragment
length polymorphism and direct sequence analyses. The Q118X mutation was present in 63 of the 70 alleles, accounting for 90% of
the disease-associated chromosomes in Japanese patients.
conclusions. The PTT is useful for detecting mutations in the M1S1 gene.
This technique showed that the Q118X mutation is a founder
mutation in Japanese patients with gelatinous droplike corneal
dystrophy, and it reflects the linkage disequilibrium reported
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